scholarly journals Normal male external genitalia do not rule out CYP11A1 deficiency

2019 ◽  
Vol 12 (7) ◽  
pp. e228235
Author(s):  
Vijaya Sarathi ◽  
Chithambaram Nagalingam
Keyword(s):  
Adrenal Insufficiency ◽  
External Genitalia ◽  
Serum Cortisol ◽  
Normal Male ◽  
Sequencing Analysis ◽  
Primary Adrenal Insufficiency ◽  
First Case ◽  
Renin Level ◽  
Male External Genitalia ◽  
Female External Genitalia

Defects in the initial steps of steroidogenesis usually present with female external genitalia in both 46,XX and 46,XY. Hence, they are not often considered in the differential diagnosis of primary adrenal insufficiency children with normal male external genitalia. Here, we report a boy with normal male external genitalia who presented with hyperpigmentation since the age of 2 years but diagnosis was delayed till 11 years of age. Evaluation revealed low-serum cortisol with elevated adrenocorticotropic hormone and direct renin level confirming primary adrenal insufficiency. Clinical exome sequencing analysis revealed a homozygous c.1351C>T (p.R451W) mutation in exon 8 of the CYP11A1 gene which was confirmed on Sanger sequencing. Both parents were heterozygous for the variation. To conclude, we report the first case of CYP11A1 deficiency from India. The report reiterates the existence of non-classic CYP11A1 deficiency characterised by primary adrenal insufficiency and normal male external genitalia in 46,XY.

First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic

2016 ◽  
Vol 29 (6) ◽  
Author(s):  
Renata Pomahačová ◽  
Josef Sýkora ◽  
Jana Zamboryová ◽  
Petra Paterová ◽  
Jana Varvařovská ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Adrenal Glands ◽  
External Genitalia ◽  
Side Chain ◽  
Primary Adrenal Insufficiency ◽  
The Czech Republic ◽  
Chain Cleavage ◽  
First Case ◽  
Cleavage Enzyme ◽  
Normal Laboratory

AbstractWe characterized a case of congenital adrenal insufficiency caused by cholesterol side-chain cleavage enzyme (P450scc) deficiency. The patient presented after birth with cardiopulmonary instability, hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. We confirmed primary adrenal insufficiency. There were no signs of the external genitalia virilism. The replacement therapy with glucocorticoids and mineralocorticoids led to normal laboratory results. At the age of 12 years, we confirmed hypergonadotropic hypogonadism, which revealed disorder of steroidogenesis in the adrenal glands and in the gonads. The enzymatic block was found at the beginning of steroidogenesis. The mutation was confirmed in the

A case of cancer-associated hyponatraemia: primary adrenal insufficiency secondary to nivolumab

2021 ◽  
Vol 21 ◽  
Author(s):  
Silvia Galliazzo ◽  
Filippo Morando ◽  
Paola Sartorato ◽  
Michela Bortolin ◽  
Ernesto De Menis
Keyword(s):  
Adverse Events ◽  
Adrenal Insufficiency ◽  
Immune Checkpoint ◽  
Checkpoint Inhibitors ◽  
Serum Cortisol ◽  
Sodium Concentration ◽  
Primary Hypothyroidism ◽  
Biochemical Tests ◽  
Primary Adrenal Insufficiency ◽  
Replacement Treatment

Background: Immunotherapy with immune checkpoint inhibitors is a new frontier for cancer treatment. On the safety profile, this drug class is associated with a new spectrum of side effects, the so-called immune-related adverse events that can potentially affect any organs, mainly endocrine glands. Scant data are available to inform the appropriate strategy of their management and treatment. Case Presentation: A 74-years man with squamous non-small cell lung cancer on nivolumab was hospitalized for fatigue, nausea, vomiting and severe hyponatremia. Biochemical tests were significant for hypotonic hyponatremia with a high urine sodium concentration. Endocrine tests showed overt primary hypothyroidism and low serum cortisol and aldosterone levels associated with an elevated circulating level of adrenocorticotrophic hormone. Adrenal antibody screening and the search of adrenal lesion on CT abdomen were negative. Thus, a nivolumab-induced primary adrenal insufficiency was diagnosed. Nivolumab withdrawal and replacement treatment with glucocorticoid and mineralocorticoid allowed clinical and biochemical recovery. Conclusion: Physicians need to be aware of potential immune-related adverse events in all patients treated with an immune checkpoint inhibitor. Their timely recognition is essential to carry out the proper treatment.

scholarly journals Primary adrenal insufficiency due to bilateral adrenal infarction in COVID-19: a case report

2021 ◽  
Author(s):  
Iza F R Machado ◽  
Isabel Q Menezes ◽  
Sabrina R Figueiredo ◽  
Fernando Morbeck Almeida Coelho ◽  
Debora R B Terrabuio ◽  
...  
Keyword(s):  
Case Report ◽  
Adrenal Insufficiency ◽  
Antiphospholipid Syndrome ◽  
Antiphospholipid Antibodies ◽  
Case Reports ◽  
Serum Cortisol ◽  
Primary Adrenal Insufficiency ◽  
Acute Adrenal Insufficiency ◽  
Adrenal Infarction ◽  
New Onset

Abstract Context Coronavirus disease 2019 (COVID-19) is a proinflammatory and prothrombotic condition, but its impact on adrenal function has not been adequately evaluated. Case report A 46-year-old woman presented with abdominal pain, hypotension, skin hyperpigmentation after COVID-19 infection. The patient had hyponatremia, serum cortisol <1.0 ug/dL, ACTH of 807 pg/mL and aldosterone <3 ng/dL. Computed tomography (CT) findings of adrenal enlargement with no parenchymal and minimal peripheral capsular enhancement after contrast were consistent with bilateral adrenal infarction. The patient had autoimmune hepatitis and positive antiphospholipid antibodies, but no previous thrombotic events. The patient was treated with intravenous hydrocortisone, followed by oral hydrocortisone and fludrocortisone. Discussion Among 115 articles, we identified nine articles, including case reports, of new-onset adrenal insufficiency and/or adrenal hemorrhage/infarction on CT in COVID-19. Adrenal insufficiency was hormonally diagnosed in five cases, but ACTH levels were measured in only three cases (high in one case and normal/low in other two cases). Bilateral adrenal non- or hemorrhagic infarction was identified in five reports (two had adrenal insufficiency, two had normal cortisol levels and one case had no data). Interestingly, the only case with well-characterized new-onset acute primary adrenal insufficiency after COVID-19 had a previous diagnosis of antiphospholipid syndrome. In our case, antiphospholipid syndrome diagnosis was established only after the adrenal infarction triggered by COVID-19. Conclusions Our findings support the association between bilateral adrenal infarction and antiphospholipid syndrome triggered by COVID-19. Therefore, patients with positive antiphospholipid antibodies should be closely monitored for symptoms or signs of acute adrenal insufficiency during COVID-19.

An unusual presentation of primary adrenal insufficiency with new onset type 1 diabetes: case report and review of the literature

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Shelby Graf ◽  
Rachel Stork Poeppelman ◽  
Jennifer McVean ◽  
Arpana Rayannavar ◽  
Muna Sunni
Keyword(s):  
Type 1 Diabetes ◽  
Adrenal Insufficiency ◽  
Diabetic Ketoacidosis ◽  
Serum Cortisol ◽  
Unusual Presentation ◽  
Primary Adrenal Insufficiency ◽  
Onset Type ◽  
Autoimmune Conditions ◽  
New Onset

Abstract Objectives To describe an atypical presentation of primary adrenal insufficiency in conjunction with new onset type 1 diabetes. Case presentation Here, we describe a case of new-onset type 1 diabetes (T1D) presenting simultaneously with an unusual presentation of primary adrenal insufficiency in a previously healthy 16-year-old. He was admitted for a typical presentation of diabetic ketoacidosis, but with extreme hyponatremia. An extensive workup revealed a low aldosterone level, appropriate cortisol level, and positive 21-hydroxylase antibodies. While the phenomenon of multiple autoimmune conditions developing in the same patient is well-described, this particular case has several atypical aspects. Our patient’s case highlights the danger of relying on random serum cortisol in the setting of acute illness to rule out adrenal insufficiency. Conclusions Adrenal insufficiency can present as isolated hypoaldosteronism without hypocortisolemia and can manifest as severe hyponatremia in the context of diabetic ketoacidosis. Workup for an unusual presentation of T1D should include a 21-hydroxylase antibody, as well as thyroid and celiac disease studies.

scholarly journals Sex-Determining Gene(s) on Distal 9p: Clinical and Molecular Studies in Six Cases*

2000 ◽  
Vol 85 (9) ◽  
pp. 3094-3100 ◽  
Author(s):  
Koji Muroya ◽  
Torayuki Okuyama ◽  
Keiji Goishi ◽  
Yoshifumi Ogiso ◽  
Shin Fukuda ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
External Genitalia ◽  
Chromosome 9 ◽  
Severe Malnutrition ◽  
Female Case ◽  
Dm Domain ◽  
Baseline Values ◽  
Male External Genitalia ◽  
Female External Genitalia

Abstract We report on clinical and molecular findings in five karyotypic males (cases 1–5) and one karyotypic female (case 6) with distal 9p monosomy. Cases 1–3 and 6 had female external genitalia, case 4 showed ambiguous external genitalia, and case 5 exhibited male external genitalia with left cryptorchidism and right intrascrotal testis. Gonadal explorations at gonadectomy in cases 3 and 4 revealed that case 3 had left streak gonad and right agonadism, and case 4 had bilateral hypoplastic testes. Endocrine studies in cases 1–4 and 6 showed that cases 1, 3, and 6 had definite primary hypogonadism, with basal FSH levels of 54, 39, and 41 IU/L, respectively, whereas case 2 with severe malnutrition was unremarkable for the baseline values, and case 4 had fairly good testicular function. Fluorescence in situ hybridization and microsatellite analyses demonstrated that all cases had hemizygosity of the 9p sex-determining region distal to D9S1779, with loss of the candidate sex-determining genes DMRT1 and DMRT2 from the abnormal chromosome 9. Sequence analysis in cases 1–4 and 6 showed that they had normal sequences of each exon of DMRT1 and the DM domain of DMRT2 on the normal chromosome 9, and that cases 1–4 had normal SRY sequence. The results provide further support for the presence of a sex-determining gene(s) on distal 9p and favor the possibility of DMRT1 and/or DMRT2 being the sex-determining gene(s). Furthermore, as hemizygosity of the 9p sex-determining region was associated with a wide spectrum of gonadogenesis from agonadism to testis formation in karyotypic males and with primary hypogonadism regardless of karyotypic sex, it is inferred that haploinsufficiency of the 9p sex-determining gene(s) primarily hinders the formation of indifferent gonad, leading to various degrees of defective testis formation in karyotypic males and impaired ovary formation in karyotypic females.

scholarly journals Primary Adrenal Insufficiency due to Multidrug-Resistant Tuberculosis: A Case Report

2017 ◽  
Vol 7 (3) ◽  
pp. 235-237
Author(s):  
Sultana Marufa Shefin ◽  
Kazi Nazmul Hossain ◽  
Jamal Uddin Ahmed ◽  
Mohammad Mostafizur Rahman
Keyword(s):  
Adrenal Gland ◽  
Adrenal Insufficiency ◽  
Adrenal Glands ◽  
Serum Cortisol ◽  
Needle Aspiration ◽  
Multidrug Resistant ◽  
Primary Adrenal Insufficiency ◽  
Resistant Tuberculosis ◽  
Multidrug Resistant Tuberculosis ◽  
Mdr Tb

Tuberculosis (TB) is a common infectious disease in developing countries like Bangladesh. Drug-resistant tuberculosis (DR-TB) poses a significant threat to the population. A relatively uncommon site of involvement of TB is adrenal gland, which is an important cause of chronic adrenal insufficiency. Here we present a case of a 40-year-old male with multidrug-resistant tuberculosis (MDR-TB) involving the adrenal glands. He was previously diagnosed as a case of disseminated TB involving lungs, right knee joint and lumbar spine and received anti-TB chemotherapy for several occasions and in different categories in last 12 years before this presentation. He presented with 4-month history of vomiting, diarrhea, generalized weakness, generalized pigmentation and postural hypotension. Investigations revealed hyponatremia with hyperkalemia. Adrenal insufficiency was suspected and serum cortisol was found to be low and serum adreno corticotropic hormone (ACTH) was high. On imaging there was bilateral adrenal enlargement. Fine needle aspiration cytology (FNAC) was done from adrenal gland which revealed granulomatous lesion suggestive of TB. Gene Xpert and culture-sensitivity of aspirated material for Mycobacterium tuberculosis revealed MDR-TB. Patient was finally diagnosed as a case of primary adrenal insufficiency due to MDR-TB of the adrenal glands and was treated with regime for MDR-TB for 20 months.Birdem Med J 2017; 7(3): 235-237

scholarly journals Treatment of gynecomastia with prednisone: case report and literature review

2019 ◽  
Vol 47 (5) ◽  
pp. 2288-2295 ◽  
Author(s):  
Yansheng Jin ◽  
Maoxiao Fan
Keyword(s):  
Adrenal Insufficiency ◽  
Serum Cortisol ◽  
Underlying Disease ◽  
Left Breast ◽  
Serum Cortisol Level ◽  
Unique Case ◽  
Primary Adrenal Insufficiency ◽  
Adrenal Deficiency ◽  
Laboratory Investigations ◽  
The Brain

This study aimed to report a unique case of primary adrenal insufficiency that was accompanied by painful gynecomastia, which was resolved by treatment with prednisone. Enlargement of the left breast with continuous weakness and generalized nausea in a male was discovered 3 months before admission. Magnetic resonance imaging of the brain was normal 1 month before presentation. A physical examination revealed that the diameter of the left breast was 5 cm and the height was 3 cm. Laboratory investigations revealed hyponatremia, with a low serum cortisol level and an elevated prolactin level. Hyperprolactinemia was suspected because of adrenal deficiency that was directly or indirectly associated with increased prolactin levels. Thus, a diagnosis of hyperprolactinemia was confirmed. Ultrasonography of the left breast showed glandular tissue hyperplasia. In the present study, treating adrenal insufficiency with prednisone relieved both gynecomastia and hyponatremia. However, gynecomastia regression and hyponatremia resolution were observed when prednisone was stopped. Gynecomastia completely resolved by re-administering prednisone. Therefore, treating the underlying disease is essential so that prednisone can be given in a timely manner.

Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Korcan Demir ◽  
Melek Yıldız ◽  
Özlem Nalbantoğlu Elmas ◽  
Hüseyin Anıl Korkmaz ◽  
Selma Tunç ◽  
...  
Keyword(s):  
Chorionic Gonadotropin ◽  
Sexual Development ◽  
External Genitalia ◽  
Hydroxysteroid Dehydrogenase ◽  
First Case ◽  
Disorder Of Sexual Development ◽  
Low Testosterone ◽  
Low Levels ◽  
Type 3 ◽  
Female External Genitalia

AbstractWe report two newborns with female external genitalia and bilateral inguinal swelling who were diagnosed with 17β-hydroxysteroid dehydrogenase type 3 deficiency, a rare cause of 46,XY disorder of sexual development. The first case had normal clitoral size and vaginal and urethral openings, palpable gonads in the inguinal region, low testosterone, and low levels of basal and GNRH-stimulated gonadotropin. The second case had similar external genitalia, low testosterone but borderline basal and normal stimulated gonadotropin levels. Low testosterone/androstenedione ratios (0.22 and 0.24, respectively; normal, >0.8) after human chorionic gonadotropin stimulation indicated 17β-hydroxysteroid dehydrogenase type 3 deficiency.

scholarly journals RECURRENT INVASIVE DUCTAL BREAST CARCINOMA PRESENTING AS PRIMARY ADRENAL INSUFFICIENCY WITH ADRENAL CRISIS

2020 ◽  
Vol 6 (2) ◽  
pp. e50-e53
Author(s):  
Mitha Madhava Naik ◽  
Michael James Nestasie ◽  
Murray B. Gordon
Keyword(s):  
Breast Carcinoma ◽  
Adrenal Insufficiency ◽  
Adrenal Crisis ◽  
Primary Adrenal Insufficiency ◽  
Invasive Ductal Breast Carcinoma ◽  
Ductal Breast Carcinoma ◽  
First Case ◽  
History Of ◽  
Recurrent Breast ◽  
Work Up

Objective: We report the first case of recurrent ductal breast carcinoma presenting as primary adrenal insufficiency. Methods: We describe a patient who developed a recurrence of invasive ductal breast carcinoma which went undetected until the patient presented with fulminant adrenal crisis. We describe here an overview of the clinical presentation, work-up, diagnosis, and treatment of adrenal crisis. Results: Adrenal crisis due to bilateral adrenal metastases secondary to invasive ductal breast carcinoma is an exceedingly rare occurrence. To our knowledge, this is the first case of recurrent breast carcinoma in which the presenting feature is primary adrenal insufficiency. Conclusion: Patients with a history of breast carcinoma and bilateral adrenal enlargement should be evaluated for the presence of primary adrenal insufficiency.

Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome)

1994 ◽  
Vol 130 (4) ◽  
pp. 327-332 ◽  
Author(s):  
Serge Lumbroso ◽  
Jean-Marc Lobaccaro ◽  
Charles Belon ◽  
Serge Amram ◽  
Bruno Bachelard ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Direct Sequencing ◽  
Receptor Gene ◽  
Large Family ◽  
External Genitalia ◽  
Androgen Receptor Gene ◽  
Normal Male ◽  
Sequencing Analysis ◽  
Androgen Insensitivity ◽  
Chain Reactions

Lumbroso S, Lobaccaro J-M, Belon C, Amram S, Bachelard B, Garandeau P, Sultan C. Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome). Eur J Endocrinol 1994;130:327–32. ISSN 0804–4643 In a large family with Reifenstein syndrome, we previously performed molecular analysis of the androgen receptor gene. Direct sequencing showed a G–A point mutation at position 2818 of exon 7, which was responsible for an arginine–histidine substitution at position 840 of the androgen receptor. In this family, the proband's mother became pregnant and wished to know whether she was carrying an unaffected fetus. Polymerase chain reactions of the sex-determining region of the Y chromosome (the SRY gene) on trophoblastic DNA at week 14 revealed a 46,XY genotype. Sequencing analysis showed the canonical sequence (CGT, encoding an Arg residue), suggesting that the fetus was not affected. The expectation of normal male sexual development was confirmed by detection of normal male external genitalia through ultrasonography at week 24. These data confirm that sequence analysis of the androgen receptor gene on trophoblastic DNA is the most reliable method for prenatally diagnosing or excluding androgen insensitivity syndrome in high-risk families. Charles Sultan, Endocrinologie et Gynécologie Pédiatriques, Service de Pédiatrie I, Hôpital A. de Villeneuve, 34059 Montpellier Cedex, France

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